A very happy Christmas with baby Logan

December 23, 2008

A very happy Christmas with baby Logan

8:20am Tuesday 23rd December 2008

HAVING their child at home for Christmas is the best gift Ruth Lawrie and Gareth Wilkieson could ask for.

Their baby, Logan, spent last Christmas in Newcastle General Hospital where he was kept in an isolation unit while he was treated for a rare illness which affects his immune system.

But this year the youngster is full of life and will be surrounded by his family.

Ruth, aged 21, said: “Logan has come on leaps and bounds and is really looking forward to Christmas.

“He loves singing and dancing around the house and appears as healthy as any other toddler.

“People have said that if they didn’t know he was ill there would be no way they could tell.”

Logan, aged 21 months, suffers from a condition called Severe Combined Immunodeficiency Syndrome.

The condition meant that anything he touched could be fatal because his immune system was unable to fight infections.

Gareth and Ruth gave up their rented home in Dale Street West, Horwich, when Logan was admitted to hospital in Newcastle— one of only two in the country to treat children with the condition — in October, 2007.

The disease affects just one in 100,000 babies.

The condition meant that he had to live in a “bubble” of clean air and could only have contact with a few people.

Everything he touched had to be sterilised to stop him picking up infections.

He underwent a successful stem-cell transplant and blood transfusion in November last year.

Ruth added: “Fortunately things have been relaxed a bit now so he can have more things and it is not as strict on the cleanliness.

“He has to go back to Newcastle every three months for a check- up but the doctors are pleased with his progress.”

And Logan can now spend time with other children.

Ruth said: “He enjoys playing with other children which is great. He really has come on leaps and bounds.”

The family moved from Newcastle to Wigan in March and are on a Bolton Council’s waiting list to get a suitable house in their home town.

linkback url: http://www.thisislancashire.co.uk/news/boltonnews/3995800.A_very_happy_Christmas_with_baby_Logan/


A sick toddler’s blog touches lives

December 22, 2008

A sick toddler’s blog touches lives

By DEBRA SKODACK
The Kansas City Star

BOLIVAR, Mo. | Granton Bayless scoots across the living room couch. When he nears the cushion’s edge, an adult gently intercepts him and holds him in her arms.

He squirms with enough energy that he gets his wish. Back on the couch. More scooting.

Granton’s life is as preciously carefree as any 14-month-old child’s. It’s about drooling through his musical Thomas the Tank Engine book. It’s about nibbling on bits of his mom’s quiche for the first time. It’s about a reassuring “you’re OK” when he takes a tumble while trying to walk.

But this toddler’s everyday moments are miracles — for Granton and for the people across the country who turn on their computers each day and click on his blog, hoping to see what they have been praying for since he became gravely ill last spring.

An anonymous reader wrote Dec. 10:

Thank you so much for the pictures. Such a blessing to see the little guy being all boy and not connected to all of those life lines (Thanking God for them, though). Christmas Blessings for you all. Continuing to pray in Kansas!

Granton’s blog is part of a trend of using the Web to endure and even thrive in difficult times, whether the subject is a health issue or a child fighting in Iraq, said Wendy Cadge, an assistant professor of sociology who specializes in religion and culture at Brandeis University in Waltham, Mass.

“It gives people a feeling of connection, of hope, of something bigger,” Cadge said. “In times like these, it helps to have something hopeful to look to.”

Since Granton’s blog was started in April, people have clicked on it more than 371,000 times.

•••

Granton was born with severe combined immunodeficiency, or “bubble boy” disease, which prevented his body from producing enough T cells to fight off disease. He received an umbilical cord blood transplant and is well enough now to be home in Bolivar, Mo.

But when he was admitted to Children’s Mercy Hospital in late March, his tiny body was so weak that doctors gave his parents, Daniel and Jenni Bayless, little hope their only child would survive.

Granton was fighting for his life far from home, leaving friends and family anxious for updates, especially the ones that said the baby had made it through another night. After about two weeks at the hospital, a friend offered to develop a blog for Daniel and Jenni Bayless.

“I had never, ever been on a blog before,” said Daniel, a high school teacher and coach.

Coming from a large family that includes six siblings and extends through Missouri, Kansas, Oklahoma and Iowa, he quickly learned the blog’s benefits.

“You know, a doctor tells you that there is not enough oxygen in your son’s body, you get hit with a ton of bricks,” Daniel said. “You man up, you swallow it up, and then you have to call your parents, your grandparents, and tell them, and they get hit with a ton of bricks. You try to be strong for everyone.

“When we posted, we didn’t have to go through that. Explaining it on the blog was almost therapeutic.”

•••

All of us at Stockton (Mo.) are thinking of you and praying for you. Our hearts ache when we think of precious little Granton having to endure so much. How wonderful that you know the creator personally who has promised never to leave us or forsake us. — Rebecca Leenerts, April 9

•••

In her 13 years as a nurse in the pediatric intensive care unit at Children’s Mercy, Kim Palmer has seen how great a blog can be for parents of seriously ill children. One post can answer a stack of phone messages from family and friends.

And the posts and comments provide a much needed connection in the isolated world of intensive care. Palmer has seen that in many parents, including the Baylesses.

“They will read a comment and it helps lift their spirits because they knew people were praying for them,” Palmer said. “They were so touched by people they don’t even know.”

The number of strangers keeping tabs on Granton did surprise family members, including Civilla Ball, Granton’s 81-year-old great-grandmother from Yukon, Okla., who improved her computer skills to become one of the blog’s most prolific commentators.

“You notice a lot of people from other places, people who have never met any of the family — that’s pretty interesting,” Ball said. “The little guy is touching a lot of lives. Yes, a lot of lives.”

The blog also provided something important to Daniel and Jenni Bayless, who are devout Baptists. It became a place to pray for Granton’s recovery. They often wrote specific prayer requests: A drop in fever. Less use of an oxygen mask. Getting out of the hospital.

After they wrote about an unexplained swelling on his neck, a possible problem with his lymph node, Cleta Spellins wrote:

Hi Daniel and Jenni … I just took a moment to check on Granton’s blog and saw him smiling … what a handsome young man he is!! Jim and I are heading to church soon and we will have our church to be praying about the lump on Granton’s neck.

Granton’s parents turned to the blog comments for strength each day.

“It was just a great comfort that so many people were praying for us,” Daniel said. “It gave us so much peace.”

Amanda Rouse of Whiteland, Ind., knows that feeling. Her now year-old son, Grady, was admitted to the hospital for pneumonia at 7 weeks old.

“I found Granton’s blog through a friend after one of our longest hospital stays,” she said. “I was still so fresh with emotion from being with my baby in the hospital. … When my son was in the hospital, we took comfort in knowing that people all over the country were praying for him, and I know that many more than that are praying for Granton thanks to his blog.”

It was Pam Sparks’ job to put Granton’s name on the prayer list at First Baptist Church in Wichita Falls, Texas, where a Bayless family friend attends. Sparks decided to look at Granton’s blog and became enthralled.

She still peeks a couple of times a week.

“I will keep looking until they stop writing,” Sparks said. “I hope to see his graduation picture on there. I might even go.”

•••

We’ve been watching your blog since shortly after Granton went into the hospital. Our son is only three months older than Granton. We shed many tears along the way and said many, many prayers. It is such a great joy to see the three of you happy and healthy. May God continue to bless your family, you all are inspirations! — A family in Grand Ledge, Mich., Dec. 20

•••

Most of the calls for prayer have been replaced by happy pictures and positive updates.

The blog racked up more than 600 hits in the 24 hours after photographs of Granton sitting on Santa’s lap were posted.

“I can’t wait to hear the good news,” said Rachel Dominguez of Lee’s Summit.

Dominguez follows 10 to 15 blogs, and she goes to Granton’s almost daily.

“Once you get started and see the progress and you pray so hard for him, well, he’s like one of your own,” said Dominguez, who has never met the Bayless family.

Jenni Bayless said that she hopes to blog about twice a week.

“I sometimes look for the strangers,” she said. “It’s something unique that they value our blog.”

•••

I have been reading Granton’s blog for quite some time now. I just wanted to say what a sweet little guy you have, and what a miracle. I’m so glad your family got to be together for the holidays. I know that must mean so much to you all. I am always praying for Granton, and that he will lead a full, happy life. — Singell family, Nov. 28


@ Go to Kansas City.com for video and a photo gallery.

linkback url: http://www.kansascity.com/105/story/948992.html


Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

December 18, 2008

Volume 122, Issue 6, Pages 1082-1086 (December 2008)
FULL TEXT ELSEWHERE
Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

Anna Villa, MDa, Luigi D. Notarangelo, MDb, Chaim M. Roifman, MD, FRCPCcCorresponding Author Informationemail address

Received 3 September 2008; accepted 10 September 2008. published online 07 November 2008.

Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, chronic diarrhea, and failure to thrive. Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE levels, and eosinophilia. The inflammation observed in these patients is believed to be triggered by clonally expanded T cells, which are predominantly of the TH2 type. These abnormal T cells, in the absence of proper regulation by other components of the immune system, secrete a host of cytokines that promote autoimmune as well as allergic inflammation. The emergence of these T-cell clones occurs in patients with hypomorphic mutations in recombination activating gene 1 or 2, but not in patients with deleterious mutations in these enzymes which render them inactive. Recently, OS was also identified in a growing list of other leaky SCIDs with mutations in RNA component of mitochondrial RNA processing endoribonuclease, adenosine deaminase, IL-2 receptor γ, IL-7 receptor α, ARTEMIS, and DNA ligase 4. This new information revealed OS is a distinct inflammatory process that can be associated with genetically diverse leaky SCIDS.

linkback url: http://www.jacionline.org/article/PIIS009167490801734X/abstract?rss=yes


New genetic cause of boy in the bubble syndrome

December 15, 2008

Contact: Karen Honey
press_releases@the-jci.org
215-573-1850
Journal of Clinical Investigation

New genetic cause of boy in the bubble syndrome

Severe combined immunodeficiency (SCID) is an inherited disease sometimes known as ‘Boy in the bubble syndrome’, because the patient lacks one or more type of immune cell, making them very susceptible to infections. Dik van Gent and colleagues, at Erasmus Medical Center, The Netherlands, have now identified a new genetic cause of SCID characterized by a lack of T cells and B cells (T–B– SCID). Specifically, they identified a patient with T–B– SCID who has a mutation in the gene DNA-PKcs.

Further analysis revealed the reason that the mutant DNA-PKcs protein generated as a result of the DNA-PKcs genetic mutation caused SCID: it was unable to activate another protein (known as Artemis) that is essential for the development of T cells and B cells. Importantly, the mutant DNA-PKcs protein retained the ability to perform one of the main functions of normal DNA-PKcs protein (a process known as kinase activity). The authors therefore conclude that clinicians with patients who have T–B– SCID should consider the possibility that mutations in the gene DNA-PKcs might be the cause of disease, even in those individuals who have normal DNA-PKcs kinase activity.

###

TITLE: A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining

AUTHOR CONTACT:
Dik C. van Gent
Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Phone: 31-10-7043932; Fax: 31-10-7044743; E-mail: d.vangent@erasmusmc.nl.

View the PDF of this article at: https://www.the-jci.org/article.php?id=37141

linkback url: http://www.eurekalert.org/pub_releases/2008-12/joci-ngc121108.php


Charity tree contest kicks off at GPO

December 7, 2008

December 7, 2008

Charity tree contest kicks off at GPO

By Faith V. Realica

For Pacific Sunday News

The third annual Shieh Su Ying Charity Tree Contest kicked off at yesterday at Guam Premier Outlets in Tamuning.

More than 20 nonprofit organizations are participating in the contest. Representatives from the organizations picked numbers yesterday to see which Christmas tree they would adopt and decorate.

This year’s theme is “Christmas Movies.”

Participants will be given until this Wednesday to decorate their trees with their selected items. Judging will begin on Thursday or Friday, said Dr. Thomas Shieh, who organizes the contest. The winner will be announced Saturday.

Giving back

“It is the Shieh Su Ying Charity Tree Contest — named after my grandmother, who had a significant influence on me while I was growing up,” Shieh said. “She died of pancreatic cancer, and her and my mom, Toshiko Shieh, always taught me to do good and give to charity.”

The trees will be judged based on the following criteria: originality, creativity and representation of their respective organization with each category being 5 points.

Alongside the trees, the organizations will place charity boxes to collect public donations. The boxes will be monitored.

Monetary prizes will be issued to three winners.

First place will receive $1,500, second place will receive $1,000 and third place will receive $500.

Shieh encourages participants to get creative with their decorations and also hopes that the public will come out and support the cause.

SKID Kid Foundation volunteer Jina Rojas is eager to begin the project to raise funds for the “Drive for Maria Hope.” Maria Hope is a local child battling a rare immune deficiency called Severe Combined Immunodeficiency, or SCID.The condition is extremely rare, occurring in 1 in 500,000 to 1 in 1,000,000 people, according to Shieh.

“It’s really exciting to see what the other organizations have come up with,” Rojas said. “The charity tree contest is a really good cause.”

Additional Facts


Wishing Well Foundation holds holiday party for kids with life-threatening illnesses

December 7, 2008

Wishing Well Foundation holds holiday party for kids with life-threatening illnesses

By JOHN OSBORNE

Sunday, December 7, 2008

For one day a year, Dallas Grice of Fort Myers gets to feel like a normal kid.

Born with Severe Combined Immunodeficiency syndrome, also known as boy-in-a-bubble syndrome, the 16-year-old wheelchair-bound teen was one of about 100 kids who came together at Children’s Hospital of Southwest Florida on Sunday for The Wishing Well Foundation’s 14th annual holiday party.

Dallas’ mother, Maria Eash, said the yearly party is a lifeline for her family.

“Dallas has gone through just about everything there is to go through, and there’s nothing else for him to go through anymore,” said Eash, who provides home care for her son and daughter, Raquelle, 11, who was also born with the syndrome. “This is the only party that he looks forward to all year, and it’s the only one that he stays up the whole time for. Vicki came into our lives just when we needed her the most.”

Eash was referring to Vicki Torbush, who founded The Wishing Well Foundation in 1994 along with her mother, Mimi. The organization provides ongoing care for children with life-threatening illnesses in Lee and Collier counties, and also grants special wishes, including a trip last February for Madison Merrifield — the daughter of former Estero fire Chief Dennis Merrifield — to meet President Bush at the White House.

“For a lot of these kids, with the economy as bad as it is, this is the only Christmas party they’re going to get,” Torbush said, adding that her foundation is currently trying to line up Shaquille O’Neal and Andy Griffith to fulfill the wishes of local children with life-threatening illnesses.

Mimi Torbush said the holiday party was important for a number of reasons.

“For a little while, these kids who have been suffering for so long are able to have a day to forget about their illness for a short period of time,” she said. “Their smiles make all the hard work involved all year long way more than worth it.”

Along with Jack Sullivan, Michael Seabrook is co-chairman of the Charity Classic Golf Tournament, which took place in October and benefited The Wishing Well Foundation.

“We’ve had a connection with Vicki for several years now, and we all feel that it’s important to do something locally for our community, to give something back,” said Seabrook, a member of the Club Managers Association, Everglades Region. “To be here and see the difference it makes in all these kids’ lives, that makes all the difference in the world.”

Bringing a little creative flair to Sunday’s party was Lisa Briggs of North Port and her daughters Tyler, 5, and Savannah, 12. Arriving with a stack of hand-drawn “Get Well” cards for the children with life-threatening illnesses, the girls were anxious to show off their work.

“It was Tyler’s idea, and Savannah helped her out,” a beaming Briggs said. “I’m very, very proud of them.”

Savannah said the exercise was extremely rewarding.

“It makes me feel good knowing that this will make the kids happy,” she said, displaying dozens of examples of the family’s collective handiwork. “I hope it will help them get better.”

For more information on The Wishing Well Foundation, call (239) 213-0397 or visit http://www.wishingwellfoundation.com.

E-mail John Osborne at johnaosborne@hotmail.com.

linkback url: http://www.naplesnews.com/news/2008/dec/07/
photos-wishing-well-foundation-holds-holiday-party/


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